Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.23532378_23536675del | CA913190465 | NPC1 | c.3243_3755-94del c.2321_2833-94del c.3294_3805+977del c.3294_3806-94del c.3243_3754+977del c.2829_3340+977del | ClinVar |
18 | g.23535632G>A | CA401791462 | NPC1 | c.3314C>T (p.Ser1105Phe) c.69C>T n.69C>T c.2392C>T c.3365C>T (p.Ser1122Phe) c.2900C>T (p.Ser967Phe) | dbSNP |
18 | g.23535632G>C | CA401791463 | NPC1 | c.3314C>G (p.Ser1105Cys) c.69C>G n.69C>G c.2392C>G c.3365C>G (p.Ser1122Cys) c.2900C>G (p.Ser967Cys) | |
18 | g.23535632G>T | CA401791461 | NPC1 | c.3314C>A (p.Ser1105Tyr) c.69C>A n.69C>A c.2392C>A c.3365C>A (p.Ser1122Tyr) c.2900C>A (p.Ser967Tyr) | ClinVar |
18 | g.23535633A>C | CA401791464 | NPC1 | c.3313T>G (p.Ser1105Ala) c.68T>G n.68T>G c.2391T>G c.3364T>G (p.Ser1122Ala) c.2899T>G (p.Ser967Ala) | |
18 | g.23535633A>G | CA401791465 | NPC1 | c.3313T>C (p.Ser1105Pro) c.68T>C n.68T>C c.2391T>C c.3364T>C (p.Ser1122Pro) c.2899T>C (p.Ser967Pro) | |
18 | g.23535633A>T | CA401791466 | NPC1 | c.3313T>A (p.Ser1105Thr) c.68T>A n.68T>A c.2391T>A c.3364T>A (p.Ser1122Thr) c.2899T>A (p.Ser967Thr) | |
18 | g.23535633_23535635del | CA2641278434 | NPC1 | c.3311_3313del (p.Val1104_Ser1105delinsAla) c.66_68del n.66_68del c.2389_2391del c.3362_3364del (p.Val1121_Ser1122delinsAla) c.2897_2899del (p.Val966_Ser967delinsAla) | gnomAD v4 |
18 | g.23535634C>A | CA503521746 | NPC1 | c.3312G>T (p.Val1104=) c.67G>T n.67G>T c.2390G>T c.3363G>T (p.Val1121=) c.2898G>T (p.Val966=) | |
18 | g.23535634C= | CA2290163922 | NPC1 | c.3312G= (p.Val1104=) c.67G= n.67G= c.2390G= c.3363G= (p.Val1121=) c.2898G= (p.Val966=) | |
18 | g.23535634C>G | CA503521747 | NPC1 | c.3312G>C (p.Val1104=) c.67G>C n.67G>C c.2390G>C c.3363G>C (p.Val1121=) c.2898G>C (p.Val966=) | |
18 | g.23535634C>T | CA8912801 | NPC1 | c.3312G>A (p.Val1104=) c.67G>A n.67G>A c.2390G>A c.3363G>A (p.Val1121=) c.2898G>A (p.Val966=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535635A>C | CA401791467 | NPC1 | c.3311T>G (p.Val1104Gly) c.66T>G n.66T>G c.2389T>G c.3362T>G (p.Val1121Gly) c.2897T>G (p.Val966Gly) | |
18 | g.23535635A>G | CA401791468 | NPC1 | c.3311T>C (p.Val1104Ala) c.66T>C n.66T>C c.2389T>C c.3362T>C (p.Val1121Ala) c.2897T>C (p.Val966Ala) | |
18 | g.23535635A>T | CA401791469 | NPC1 | c.3311T>A (p.Val1104Glu) c.66T>A n.66T>A c.2389T>A c.3362T>A (p.Val1121Glu) c.2897T>A (p.Val966Glu) | |
18 | g.23535636C>A | CA401791470 | NPC1 | c.3310G>T (p.Val1104Leu) c.65G>T n.65G>T c.2388G>T c.3361G>T (p.Val1121Leu) c.2896G>T (p.Val966Leu) | |
18 | g.23535636C= | CA2290163923 | NPC1 | c.3310G= (p.Val1104=) c.65G= n.65G= c.2388G= c.3361G= (p.Val1121=) c.2896G= (p.Val966=) | |
18 | g.23535636C>G | CA401791471 | NPC1 | c.3310G>C (p.Val1104Leu) c.65G>C n.65G>C c.2388G>C c.3361G>C (p.Val1121Leu) c.2896G>C (p.Val966Leu) | |
18 | g.23535636C>T | CA401791472 | NPC1 | c.3310G>A (p.Val1104Met) c.65G>A n.65G>A c.2388G>A c.3361G>A (p.Val1121Met) c.2896G>A (p.Val966Met) | |
18 | g.23535637A= | CA2290163924 | NPC1 | c.3309T= (p.Gly1103=) c.64T= n.64T= c.2387T= c.3360T= (p.Gly1120=) c.2895T= (p.Gly965=) | |
18 | g.23535637A>C | CA503521748 | NPC1 | c.3309T>G (p.Gly1103=) c.64T>G n.64T>G c.2387T>G c.3360T>G (p.Gly1120=) c.2895T>G (p.Gly965=) | |
18 | g.23535637A>G | CA503521750 | NPC1 | c.3309T>C (p.Gly1103=) c.64T>C n.64T>C c.2387T>C c.3360T>C (p.Gly1120=) c.2895T>C (p.Gly965=) | dbSNP |
18 | g.23535637A>T | CA503521749 | NPC1 | c.3309T>A (p.Gly1103=) c.64T>A n.64T>A c.2387T>A c.3360T>A (p.Gly1120=) c.2895T>A (p.Gly965=) | ClinVar dbSNP |
18 | g.23535637dup | CA16041911 | NPC1 | c.3309dup (p.Val1104CysfsTer17) c.64dup n.64dup c.2387dup c.3360dup (p.Val1121CysfsTer17) c.2895dup (p.Val966CysfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535638C>A | CA401791475 | NPC1 | c.3308G>T (p.Gly1103Val) c.63G>T n.63G>T c.2386G>T c.3359G>T (p.Gly1120Val) c.2894G>T (p.Gly965Val) | gnomAD v4 |
18 | g.23535638C>G | CA401791474 | NPC1 | c.3308G>C (p.Gly1103Ala) c.63G>C n.63G>C c.2386G>C c.3359G>C (p.Gly1120Ala) c.2894G>C (p.Gly965Ala) | |
18 | g.23535638C>T | CA401791473 | NPC1 | c.3308G>A (p.Gly1103Asp) c.63G>A n.63G>A c.2386G>A c.3359G>A (p.Gly1120Asp) c.2894G>A (p.Gly965Asp) | gnomAD v4 |
18 | g.23535639C>A | CA401791476 | NPC1 | c.3307G>T (p.Gly1103Cys) c.62G>T n.62G>T c.2385G>T c.3358G>T (p.Gly1120Cys) c.2893G>T (p.Gly965Cys) | gnomAD v4 |
18 | g.23535639C= | CA2290163925 | NPC1 | c.3307G= (p.Gly1103=) c.62G= n.62G= c.2385G= c.3358G= (p.Gly1120=) c.2893G= (p.Gly965=) | |
18 | g.23535639C>G | CA401791477 | NPC1 | c.3307G>C (p.Gly1103Arg) c.62G>C n.62G>C c.2385G>C c.3358G>C (p.Gly1120Arg) c.2893G>C (p.Gly965Arg) | dbSNP gnomAD v4 |
18 | g.23535639C>T | CA401791478 | NPC1 | c.3307G>A (p.Gly1103Ser) c.62G>A n.62G>A c.2385G>A c.3358G>A (p.Gly1120Ser) c.2893G>A (p.Gly965Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.23535640G>A | CA8912802 | NPC1 | c.3306C>T (p.Leu1102=) c.61C>T n.61C>T c.2384C>T c.3357C>T (p.Leu1119=) c.2892C>T (p.Leu964=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535640G>C | CA503521751 | NPC1 | c.3306C>G (p.Leu1102=) c.61C>G n.61C>G c.2384C>G c.3357C>G (p.Leu1119=) c.2892C>G (p.Leu964=) | |
18 | g.23535640G= | CA2290163926 | NPC1 | c.3306C= (p.Leu1102=) c.61C= n.61C= c.2384C= c.3357C= (p.Leu1119=) c.2892C= (p.Leu964=) | |
18 | g.23535640G>T | CA503521752 | NPC1 | c.3306C>A (p.Leu1102=) c.61C>A n.61C>A c.2384C>A c.3357C>A (p.Leu1119=) c.2892C>A (p.Leu964=) | |
18 | g.23535641A>C | CA401791479 | NPC1 | c.3305T>G (p.Leu1102Arg) c.60T>G n.60T>G c.2383T>G c.3356T>G (p.Leu1119Arg) c.2891T>G (p.Leu964Arg) | |
18 | g.23535641A>G | CA401791480 | NPC1 | c.3305T>C (p.Leu1102Pro) c.60T>C n.60T>C c.2383T>C c.3356T>C (p.Leu1119Pro) c.2891T>C (p.Leu964Pro) | |
18 | g.23535641A>T | CA401791481 | NPC1 | c.3305T>A (p.Leu1102His) c.60T>A n.60T>A c.2383T>A c.3356T>A (p.Leu1119His) c.2891T>A (p.Leu964His) | |
18 | g.23535642G>A | CA401791482 | NPC1 | c.3304C>T (p.Leu1102Phe) c.59C>T n.59C>T c.2382C>T c.3355C>T (p.Leu1119Phe) c.2890C>T (p.Leu964Phe) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.23535642G>C | CA401791483 | NPC1 | c.3304C>G (p.Leu1102Val) c.59C>G n.59C>G c.2382C>G c.3355C>G (p.Leu1119Val) c.2890C>G (p.Leu964Val) | |
18 | g.23535642G= | CA2290163927 | NPC1 | c.3304C= (p.Leu1102=) c.59C= n.59C= c.2382C= c.3355C= (p.Leu1119=) c.2890C= (p.Leu964=) | |
18 | g.23535642G>T | CA401791484 | NPC1 | c.3304C>A (p.Leu1102Ile) c.59C>A n.59C>A c.2382C>A c.3355C>A (p.Leu1119Ile) c.2890C>A (p.Leu964Ile) | |
18 | g.23535643G>A | CA503521754 | NPC1 | c.3303C>T (p.Asn1101=) c.58C>T n.58C>T c.2381C>T c.3354C>T (p.Asn1118=) c.2889C>T (p.Asn963=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.23535643G>C | CA401791485 | NPC1 | c.3303C>G (p.Asn1101Lys) c.58C>G n.58C>G c.2381C>G c.3354C>G (p.Asn1118Lys) c.2889C>G (p.Asn963Lys) | |
18 | g.23535643G= | CA2290163928 | NPC1 | c.3303C= (p.Asn1101=) c.58C= n.58C= c.2381C= c.3354C= (p.Asn1118=) c.2889C= (p.Asn963=) | |
18 | g.23535643G>T | CA401791486 | NPC1 | c.3303C>A (p.Asn1101Lys) c.58C>A n.58C>A c.2381C>A c.3354C>A (p.Asn1118Lys) c.2889C>A (p.Asn963Lys) | |
18 | g.23535644T>A | CA401791488 | NPC1 | c.3302A>T (p.Asn1101Ile) c.57A>T n.57A>T c.2380A>T c.3353A>T (p.Asn1118Ile) c.2888A>T (p.Asn963Ile) | gnomAD v4 |
18 | g.23535644T>C | CA401791489 | NPC1 | c.3302A>G (p.Asn1101Ser) c.57A>G n.57A>G c.2380A>G c.3353A>G (p.Asn1118Ser) c.2888A>G (p.Asn963Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.23535644T>G | CA401791487 | NPC1 | c.3302A>C (p.Asn1101Thr) c.57A>C n.57A>C c.2380A>C c.3353A>C (p.Asn1118Thr) c.2888A>C (p.Asn963Thr) | |
18 | g.23535644T= | CA2290163929 | NPC1 | c.3302A= (p.Asn1101=) c.57A= n.57A= c.2380A= c.3353A= (p.Asn1118=) c.2888A= (p.Asn963=) |